The DDD project is intended to improve diagnosis and care of developmental problems in children with underlying genetic causes, by collating and analysing genomic data along with medical information to identify key changes linked to developmental disorders. It builds on the international DECIPHER database (see previous news) established in 2004 at the Wellcome Trust Sanger Institute to help doctors link rare genetic changes to specific medical problems.

12,000 children either born with multiple malformations or displaying serious physical or mental developmental delay will be recruited to the DDD Project over the next five years, and their DNA analysed using rapid whole genome sequencing and DNA microchip technologies. This should allow more in-depth investigation than current clinical methods, and identify new genetic changes linked to the developmental problems, creating simultaneously a national resource accessible to all clinical genetics services. The hope is that this will make it possible to rapidly identify genetic causes of developmental disorders much more often than is currently possible.

Consultant Clinical Geneticist Dr Helen Firth said that the project offered “a win-win-win to patients, clinicians and scientists alike” by affording new opportunities not only for diagnosis and care, but also research into treatments. It will additionally include consideration of ethical and social issues arising from the use of these new and more powerful methods for diagnosis for patients, families and health professionals.

Comment: This is a showcase research project that should both advance science and medical knowledge whilst simultaneously bringing rapid benefits to patients. A prompt and accurate diagnosis of a genetic cause of a developmental disorder can be important for informing medical care of the affected child, for removing the need for other lengthy medical investigations, and for helping the family to understand why a child has been affected and risks to future children.